Girirajan_Cell (IMAGE)
Caption
New research helps explain why disease-associated genetic variants can lead to variable clinical outcomes, influenced both by the patterns of secondary variants, or genetic background, and by how cohorts of individuals in a study are ascertained. In a family (left), secondary variants can influence the severity of clinical outcomes (indicated by intensity of blue shading) or which features are present between a parent and a child that both carry the primary variant. However, this relationship between secondary and primary variants is different if the primary variant was discovered in a biobank that includes mostly healthy individuals (middle) or people identified for a shared clinical feature (right).
Credit
Corrine Smolen, Girirajan Laboratory, Penn State
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License
CC BY-NC-ND